An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy

Apollonia T. J. M. Helderman-van den Enden*, Kamlesh Madan, Martijn H. Breuning, Annemieke H. van der Hout, Egbert Bakker, Christine E. M. de Die-Smulders, Hendrika B. Ginjaar

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Prenatal diagnosis for Duchenne muscular dystrophy (DMD) was introduced in the Netherlands in 1984. We have investigated the impact of 26 years (1984-2009) of prenatal testing. Of the 635 prenatal diagnoses, 51% were males; nearly half (46%) of these were affected or had an increased risk of DMD. As a result 145 male fetuses were aborted and 174 unaffected boys were born. The vast majority (78%) of females, now 16 years or older, who were identified prenatally have not been tested for carrier status. Their average risk of being a carrier is 28%. We compared the incidences of DMD in the periods 1961-1974 and 1993-2002. The incidence of DMD did not decline but the percentage of first affected boys increased from 62 to 88%. We conclude that a high proportion of families with de novo mutations in the DMD gene cannot make use of prenatal diagnosis, partly because the older affected boys are not diagnosed before the age of five. Current policy, widely accepted in the genetic community, dictates that female fetuses are not tested for carrier status. These females remain untested as adults and risk having affected offspring as well as progressive cardiac disease. We see an urgent need for a change in policy to improve the chances of prevention of DMD. The first step would be to introduce neonatal screening of males. The next is to test females for carrier status if requested, prenatally if fetal DNA is available or postnatally even before adulthood. European Journal of Human Genetics (2013) 21, 21-26; doi: 10.1038/ejhg.2012.101; published online 6 June 2012
Original languageEnglish
Pages (from-to)21-26
JournalEuropean Journal of Human Genetics
Issue number1
Publication statusPublished - Jan 2013


  • carrier testing
  • Duchenne muscular dystrophy
  • neonatal screening
  • preimplantation genetic diagnosis
  • prenatal diagnosis


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